RIOK1 RIO kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RIOK1provided by HGNC
Official Full Name: RIO kinase 1provided by HGNC
Primary source: HGNC:HGNC:18656
See related: Ensembl:ENSG00000124784 MIM:617753; AllianceGenome:HGNC:18656
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RIO1; AD034; RRP10; bA288G3.1
Summary: The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]
Expression: Ubiquitous expression in testis (RPKM 12.9), bone marrow (RPKM 9.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p24.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (7389808..7418037)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (7258847..7287080)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (7390041..7418270)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Oncogenic Protein Kinase/ATPase RIOK1 Is Up-Regulated via the c-myc/E2F Transcription Factor Axis in Prostate Cancer.
Title: The Oncogenic Protein Kinase/ATPase RIOK1 Is Up-Regulated via the c-myc/E2F Transcription Factor Axis in Prostate Cancer.
RIOK1 mediates p53 degradation and radioresistance in colorectal cancer through phosphorylation of G3BP2.
Title: RIOK1 mediates p53 degradation and radioresistance in colorectal cancer through phosphorylation of G3BP2.
The final step of 40S ribosomal subunit maturation is controlled by a dual key lock.
Title: The final step of 40S ribosomal subunit maturation is controlled by a dual key lock.
Elevated Expression of RIOK1 Is Correlated with Breast Cancer Hormone Receptor Status and Promotes Cancer Progression.
Title: Elevated Expression of RIOK1 Is Correlated with Breast Cancer Hormone Receptor Status and Promotes Cancer Progression.
Together, this study highlights the importance of a RIOK1 methylation-phosphorylation switch in determining colorectal and gastric cancer development.
Title: Targeting posttranslational modifications of RIOK1 inhibits the progression of colorectal and gastric cancers.
we demonstrate that RIOK1 promotes lung colonization in vivo and that RIOK1 is overexpressed in different subtypes of human lung- and breast cancer.
Title: The Atypical Kinase RIOK1 Promotes Tumor Growth and Invasive Behavior.
Docking studies revealed that TIBI can occupy the ATP-binding site of Rio1 in a manner similar to toyocamycin, and enhances the thermostability of the enzyme.
Title: Benzimidazole inhibitors of protein kinase CK2 potently inhibit the activity of atypical protein kinase Rio1.
methionine adenosyltransferase II alpha (MAT2A), and the arginine methyltransferase, PRMT5, as vulnerable enzymes in cells with MTAP deletion.
Title: MTAP Deletions in Cancer Create Vulnerability to Targeting of the MAT2A/PRMT5/RIOK1 Axis.
The RIO kinase fold generates a versatile ATPase enzyme, which in the case of Rio1 is activated following the Rio2 step to regulate one of the final 40S maturation events, at which time the 60S subunit is recruited for final quality control check.
Title: Dominant Rio1 kinase/ATPase catalytic mutant induces trapping of late pre-40S biogenesis factors in 80S-like ribosomes.
These results imply that, in glioblastoma cells, constitutive Akt signaling drives RIO kinase overexpression, which creates a feedforward loop that promotes and maintains oncogenic Akt activity through stimulation of mTor signaling.
Title: A kinome-wide RNAi screen in Drosophila Glia reveals that the RIO kinases mediate cell proliferation and survival through TORC2-Akt signaling in glioblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102574 (e-PCR)
- UniSTS:96908

D6S1640 (e-PCR), detects polymorphism
- UniSTS:13263

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in maturation of SSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of SSU-rRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal small subunit biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
part_of methyltransferase complex	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of preribosome, small subunit precursor	IBA Inferred from Biological aspect of Ancestor more info
part_of preribosome, small subunit precursor	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine/threonine-protein kinase RIO1

NP_001335123.1

EC 2.7.11.1

NP_113668.2

EC 2.7.11.1

XP_011513235.2

EC 2.7.11.1

XP_054212486.1

EC 2.7.11.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348194.2 → NP_001335123.1 serine/threonine-protein kinase RIO1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL138878, AL139095

Conserved Domains (1) summary

cd05147
Location:78 → 267

RIO1_euk; Catalytic domain of the atypical protein serine kinase, Eukaryotic RIO1 kinase
NM_031480.3 → NP_113668.2 serine/threonine-protein kinase RIO1 isoform 1

See identical proteins and their annotated locations for NP_113668.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL138878, AL139095

Consensus CDS

CCDS4500.1

UniProtKB/Swiss-Prot

B2RB28, Q8NDC8, Q96NV9, Q9BRS2

Related

ENSP00000369162.2, ENST00000379834.7

Conserved Domains (1) summary

cd05147
Location:182 → 371

RIO1_euk; Catalytic domain of the atypical protein serine kinase, Eukaryotic RIO1 kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

7389808..7418037

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514933.4 → XP_011513235.2 serine/threonine-protein kinase RIO1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

7258847..7287080

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356511.1 → XP_054212486.1 serine/threonine-protein kinase RIO1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_153005.1: Suppressed sequence

Description

NM_153005.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.